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Mendeliome

Gene: RNU7-1

Green List (high evidence)

RNU7-1 (RNA, U7 small nuclear 1)
EnsemblGeneIds (GRCh38): ENSG00000238923
EnsemblGeneIds (GRCh37): ENSG00000238923
RNU7-1 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypes
Aicardi-Goutieres syndrome 9, MIM# 619487

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

- 16 affected individuals from 11 families
- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of
replication-dependent histone (RDH) mRNAs
Sources: Literature
Created: 4 Jan 2021, 4:47 a.m. | Last Modified: 4 Jan 2021, 4:48 a.m.
Panel Version: 0.5914

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
PMID: 33230297

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aicardi-Goutieres syndrome 9, MIM# 619487
Tags
non-coding gene
Clinvar variants
Variants in RNU7-1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: RNU7-1.

23 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNU7-1 were changed from Aicardi–Goutières syndrome-like to Aicardi-Goutieres syndrome 9, MIM# 619487

7 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu7-1 has been classified as Green List (High Evidence).

7 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RNU7-1 were changed from PMID: 33230297 to Aicardi–Goutières syndrome-like

7 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rnu7-1 has been classified as Green List (High Evidence).

4 Jan 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ee Ming Wong (Victorian Clinical Genetics Services)

gene: RNU7-1 was added gene: RNU7-1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU7-1 were set to PMID: 33230297 Phenotypes for gene: RNU7-1 were set to PMID: 33230297 Review for gene: RNU7-1 was set to GREEN gene: RNU7-1 was marked as current diagnostic